Purinnukleosid-Phosphorylase-Defizienz
Purine nucleoside phosphorylase deficiency
OMIM: 613179
Synonyme
- Immundefizienz infolge einerPurinnukleosid-Phosphorylase-Defizienz
- PNP-Defizienz
- immunodeficiency due to purine nucleoside phosphorylase deficiency
- PNP deficiency
Gen locations
- PNP(OMIM 164050)